The supercomputing and data environment at the National Computational Infrastructure has played a critical role in the science that led to the overturning of Australia’s greatest miscarriage of justice.
A team of researchers led by Prof Carola Vinuesa from the Francis Crick Institute (then at The Australian National University – ANU) working together with bioinformatician Dr Marcin Adamski from the ANU, used the NCI platform to store, process and analyse the genomic data which led to the overturning last month of Kathleen Folbigg’s 2003 convictions over the deaths of her four children.
The scientists’ findings and additional expert testimony formed part of two formal inquiries into Ms Folbigg’s convictions. The new genetic evidence, as well as other medical evidence, provided reasonable doubt as to the children’s manner of death.
The researchers used bioinformatics methods to analyse genomic data from Ms Folbigg and her four children. A novel gene variant in the gene CALM2 was discovered in both female children and was confirmed to affect the function of the key calmodulin protein, reducing its ability to regulate calcium transport involved in heart contractions.
While the CALM2 gene was already known to be associated with cardiac arrythmias and sudden unexpected death in childhood, the particular mutation the researchers found was previously undescribed. The researchers searched through more than 5,000 genomes stored in two different databases of genetic data, the Medical Genome Reference Bank and their own Centre for Personalised Immunology’s genomic data collection, both also stored at NCI. NCI’s integration of high-performance computing with high-performance data means that genome analysis and scientific discovery can be performed efficiently and powerfully within a single research environment.
The scientific evidence for genetic causes of disease continues to grow rapidly as the technologies for processing, analysing and storing genomic data develop. The field of bioinformatics is enabling novel research into rare diseases and cancers. More and more, genomic science will be used at the heart of personalised medicine to provide diagnosis and treatment options that were previously unknown.
Genomic research requires powerful computing hardware and extensive, secure data management. NCI is proud to provide the technologies underpinning life-changing discoveries and scientific progress, and is glad to have played a role in bringing justice to Kathleen Folbigg.
Read the scientific study here: https://academic.oup.com/europace/article/23/3/441/5983835?login=true
